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Type: Journal article
Title: Risks of colorectal and other cancers after endometrial cancer for women with lynch syndrome
Author: Win, A.
Lindor, N.
Winship, I.
Tucker, K.
Buchanan, D.
Young, J.
Rosty, C.
Leggett, B.
Giles, G.
Goldblatt, J.
Macrae, F.
Parry, S.
Kalady, M.
Baron, J.
Ahnen, D.
Marchand, L.
Gallinger, S.
Haile, R.
Newcomb, P.
Hopper, J.
et al.
Citation: Journal of the National Cancer Institute, 2013; 105(4):274-279
Publisher: Oxford University Press
Issue Date: 2013
ISSN: 0027-8874
Statement of
Aung Ko Win, Noralane M. Lindor, Ingrid Winship, Katherine M. Tucker, Daniel D. Buchanan, Joanne P. Young, Christophe Rosty, Barbara Leggett, Graham G. Giles, Jack Goldblatt, Finlay A. Macrae, Susan Parry, Matthew F. Kalady, John A. Baron, Dennis J. Ahnen, Loic Le Marchand, Steven Gallinger, Robert W. Haile, Polly A. Newcomb, John L. Hopper and Mark A. Jenkins​
Abstract: BACKGROUND: Lynch syndrome is an autosomal dominantly inherited disorder caused by germline mutations in DNA mismatch repair (MMR) genes. Previous studies have shown that MMR gene mutation carriers are at increased risk of colorectal, endometrial, and several other cancers following an initial diagnosis of colorectal cancer. We estimated cancer risks following an endometrial cancer diagnosis for women carrying MMR gene mutations. METHODS: We obtained data from the Colon Cancer Family Registry for a cohort of 127 women who had a diagnosis of endometrial cancer and who carried a mutation in one of four MMR genes (30 carried a mutation in MLH1, 72 in MSH2, 22 in MSH6, and 3 in PMS2). We used the Kaplan-Meier method to estimate 10- and 20-year cumulative risks for each cancer. We estimated the age-, country-, and calendar period-specific standardized incidence ratios (SIRs) for each cancer, compared with the general population. RESULTS: Following endometrial cancer, women carrying MMR gene mutations had the following 20-year risks of other cancer cancers: colorectal cancer (48%, 95% confidence interval [CI] = 35% to 62%); cancer of the kidney, renal pelvis, or ureter (11%, 95% CI = 3% to 20%); urinary bladder cancer (9%, 95% CI = 2% to 17%); and breast cancer (11%, 95% CI = 4% to 19%). Compared with the general population, these women were at statistically significantly elevated risks of colorectal cancer (SIR = 39.9, 95% CI = 27.2 to 58.3), cancer of the kidney, renal pelvis, or ureter (SIR = 28.3, 95% CI = 11.9 to 48.6), urinary bladder cancer (SIR = 24.3, 95% CI = 8.56 to 42.9), and breast cancer (SIR = 2.51, 95% CI = 1.17 to 4.14). CONCLUSIONS: Women with Lynch syndrome who are diagnosed with endometrial cancer have increased risks of several cancers, including breast cancer.
Keywords: Breast Neoplasms; Colorectal Neoplasms; Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms; Urologic Neoplasms; Adaptor Proteins, Signal Transducing; DNA-Binding Proteins; Nuclear Proteins; Germ-Line Mutation; Adenosine Triphosphatases; MutS Homolog 2 Protein; DNA Repair Enzymes; Neoplasms; Kaplan-Meier Estimate; DNA Mismatch Repair; Skin Neoplasms; Heterozygote
Rights: © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please email:
RMID: 0030012022
DOI: 10.1093/jnci/djs525
Appears in Collections:Medicine publications

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